Progressive Retinal Atrophy (PRA3 type)

Find out if your Tibetan Spaniel or Tibetan Terrier could develop PRA at CAGT.

UK only
CODE PRA3-FAM161A
Categories ,
Breed(s) ,
Aliases

Results from this test will be reported as detailed in the Registry Reporting list.

Overview

Progressive retinal atrophy (PRA) is the most common form of inherited disease affecting the retina in dogs. Genetically different forms of PRA, caused by mutations in different genes, affect many breeds of dog with each form usually affecting one or a small number of breeds. PRA is characterised by progressive degeneration of the retina at the back of the eye and leads to vision loss and blindness.

This specific form of PRA is caused by a mutation in a gene called FAM161A and is indistinguishable from other forms of PRA in other breeds. The average age of onset of clinical signs is around 5 years, but can be anything between 2 and 11 years. In humans, mutations in FAM161A are associated with a condition known as Retinitis Pigmentosa, symptoms of which include loss of peripheral vision and the ability to see at night. There is no cure for this form of PRA, but using the DNA test to identify dogs that carry the mutation in FAM161A will prevent further spread of this blinding condition in this lovely breed.

Autosomal Recessive

The approximately 230bp insertion in the gene called FAM161A that causes Progressive Retinal Atrophy in Tibetan Spaniels and Tibetan Terriers is recessive. This means that dogs that carry two copies of the mutation (homozygotes) will almost certainly develop PRA during their lives. Dogs that carry a single copy of the mutation (also known as carriers or heterozygotes) will not develop PRA as a result of the FAM161A mutation, but they will pass the mutation onto about half of any offspring they have. Breeding dogs that will not develop PRA should be the breeder’s priority, with a reduction in mutation frequency within the whole breed being the secondary, longer-term target.

Carriers can be bred from safely, provided they are mated to a dog that has also been tested and is clear of the FAM161A mutation (i.e. carry no copies of the mutation). If a carrier is mated to a clear dog approximately half of the resulting puppies will also be carriers, so should be tested themselves prior to breeding. Breeding carriers to tested, clear dogs is safe, in terms of avoiding dogs affected with PRA, and will help to maintain the genetic diversity of a breed. It is therefore encouraged, particularly in the first few generations following the availability of a new genetic test, so that other desirable characteristics and traits can be preserved before the frequency of the disease mutation within the breed is gradually reduced.

Gene FAM161A
Variant 238bp SINE insertion (c.1758-15_17585-16ins238)
Assay Type Variant Specific
Inheritance Autosomal Recessive
Severity Low-Moderate: Affected animals experience discomfort or dysfunction of some kind, but life expectancy is not affected.
Publication

Downs LM and Mellersh CS. (2014) An Intronic SINE Insertion in FAM161A that Causes Exon-Skipping Is Associated with Progressive Retinal Atrophy in Tibetan Spaniels and Tibetan Terriers.. PLoS ONE. 9(4): e93990. DOI: 10.1371/journal.pone.0093990.